CAJ | 학술논문

目的探讨线粒体DNA ND1基因T3394C突变与老年2型糖尿病的关系. 方法采用聚合酶链反应(PCR)产物直接测序法对340例无血缘关系的2型糖尿病患者(其中老年糖尿病组90例,非老年糖尿病组250例)和265例健康对照者(老年健康对照组130例,非老年健康对照组135例)的血细胞线粒体DNA进行突变位点检测,并用DNASTAR和Antheprot 5.0软件分析突变位点. 结果老年糖尿病组、老年健康对照组和非老年糖尿病组分别检出5例、1例和2例T3394C突变.T3394C突变在老年糖尿病组和老年健康对照组之间分布差异有统计学意义(P＜0.05),在老年糖尿病组和非老年糖尿病组之间分布差异也有统计学意义(P＜0.05).蛋白质结构预测显示T3394C突变引起ND1蛋白二级结构改变. 结论线粒体DNA ND1基因T3394C突变可能与老年2型糖尿病的发生有关.
목적 탐토선립체DNA ND1기인T3394C돌변여노년2형당뇨병적관계. 방법 채용취합매련반응(PCR)산물직접측서법대340례무혈연관계적2형당뇨병환자(기중노년당뇨병조90례,비노년당뇨병조250례)화265례건강대조자(노년건강대조조130례,비노년건강대조조135례)적혈세포선립체DNA진행돌변위점검측,병용DNASTAR화Antheprot 5.0연건분석돌변위점. 결과 노년당뇨병조、노년건강대조조화비노년당뇨병조분별검출5례、1례화2례T3394C돌변.T3394C돌변재노년당뇨병조화노년건강대조조지간분포차이유통계학의의(P＜0.05),재노년당뇨병조화비노년당뇨병조지간분포차이야유통계학의의(P＜0.05).단백질결구예측현시T3394C돌변인기ND1단백이급결구개변. 결론 선립체DNA ND1기인T3394C돌변가능여노년2형당뇨병적발생유관.
Objective To explore the relationship between the T3394C mutation of the mitoehondrial DNA ND1 gene and type 2 diabetes mellitus (T2DM) in the elderly. Methods Direct sequencing of PCR product was applied to study the T3394C mutation of mitochondrial DNA in 340 unrelated individuals in T2DM patients (90 cases of elderly patients, 250 cases of non-elderly patients) and 265 normal controls (130 cases of elderly controls, 135 cases of non-elderly controls) from Zhejiang province. The mutation was analyzed by DNASTAR and Antheprot 5.0 softwares. Results The T3394C mutation of mitochondrial DNA was found in 5 of 90 elderly T2DM patients (5.6%),1 of 130 elderly controls(0.8%), and 2 of 250 non-elderly T2DM patients (0.8%). The incidence of the mutation was significantly different between the elderly T2DM patients and elderly controls(P＜0.05), as well as between the elderly T2DM patients and non-elderly T2DM patients(P＜0.05). The T3394C mutation caused the change of the ND1 protein secondary structure. Conclusions The T3394C mutation of the mitochondrial DNA ND1 gene may contribute to the pathogenesis of T2DM in the elderly with other genetic and environment factors.